Varaico: Literature-Extracted Genetic Variants

HJV

293 papers

RefSeq Summary

The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also repr...

Pfam Domains

RGM_Naa 37–121UCSCRepulsive guidance molecule (RGM) N-terminal domain

RGM_Caa 163–389UCSCRepulsive guidance molecule (RGM) C-terminal domain

Gene Aliases

HGNC Name

hemojuvelin BMP co-receptor

HGNC Previous Symbol

HFE2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_213653.4

p.A379T

c.1135G>A

Surrounding Variants

1 paper

NM_213653.4

p.A379E

c.1136C>A

2 papers

NM_213653.4

p.A376E

c.1127C>A

4 papers

NM_213653.4

p.A384V

c.1151C>T

1 paper

NM_213653.4

p.F373C

c.1118T>G

14 papers

NM_213653.4

p.R385*

c.1153C>T

1 paper

NM_213653.4

p.R385G

c.1153C>G

1 paper

NM_213653.4

p.R385Q

c.1154G>A

1 paper

NM_213653.4

p.R385del1

c.1153_1154delTCG

4 papers

NM_213653.4

p.N372D

c.1114A>G

1 paper

NM_213653.4

p.P371L

c.1112C>T

1 paper

NM_213653.4

p.P371S

c.1111C>T

1 paper

NM_213653.4

p.D370V

c.1109A>T